A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease

Journal of the Formosan Medical Association = Taiwan Yi Zhi
Wen-Chau ChenMing-Che Tsai

Abstract

Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR. All eight genes are involved in the early development of the enteric nervous system, and most act through two distinct biochemical pathways mediated by RET and EDNRB. Mutations in RET and EDNRB account for up to 50% and 5% of HSCR cases in the general population, respectively. Interaction between these two signaling pathways could modify RET expression and, therefore, HSCR phenotype. Here, we report the case of a 1-year-old Taiwanese boy who presented with abdominal distension since birth and bilious vomiting after feeding. HSCR (short-segment type) was diagnosed based on X-ray, lower gastrointestinal series and biopsy findings. Mutation analysis revealed a heterozygous T>C missense mutation in exon 1 of the EDNRB gene, that substitutes the highly conserved cysteine-90 residue in the extracellular domain of the G protein-coupled receptor with an argini...Continue Reading

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Citations

Jul 31, 2008·Pediatric Surgery International·Maria Cecília M CoelhoMaria Merces Santos
Apr 13, 2013·Pediatric Surgery International·Weibing TangYankai Xia
Mar 19, 2013·Cell Biology International·Nian-Feng SunAi-Ling Tian
Nov 20, 2008·The Journal of Dermatology·Taisuke KondoYasushi Tomita
Apr 14, 2017·The British Journal of Dermatology·J ZhangZ Yao

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